Somatic activating BRAF variants cause isolated lymphatic malformations

Autor: Kaitlyn Zenner, Dana M. Jensen, Victoria Dmyterko, Giridhar M. Shivaram, Candace T. Myers, Cate R. Paschal, Erin R. Rudzinski, Minh-Hang M. Pham, V. Chi Cheng, Scott C. Manning, Randall A. Bly, Sheila Ganti, Jonathan A. Perkins, James T. Bennett

Publikováno v: HGG Advances, Vol 3, Iss 2, Pp 100101- (2022)

Summary: Somatic activating variants in PIK3CA, the gene that encodes the p110α catalytic subunit of phosphatidylinositol 3-kinase (PI3K), have been previously detected in ∼80% of lymphatic malformations (LMs).1,2 We report the presence of somatic

Externí odkaz: https://doaj.org/article/2fb69ded718f4219a8ac5c125d17cbcd

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Autor: Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, SYNAPS Study Group, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)

Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental a

Externí odkaz: https://doaj.org/article/67fdcf82e84544e095b6c7c81e0bd8ff

Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature

Autor: Raj P. Kapur, Allan M. Goldstein, Deborah S. Loeff, Candace T. Myers, Cate R. Paschal

Publikováno v: Pediatric and Developmental Pathology. 25:581-597

Background Dominant gamma-smooth muscle actin gene ( ACTG2) variants cause clinically diverse forms of visceral myopathy. Many patients undergo intestinal resection or biopsy before identification of their genetic defect. The pathology of ACTG2-varia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::35d9b786ee95553093c295fb61fb82bb
https://doi.org/10.1177/10935266221107449

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Autor: Zaid Afawi, Shekeeb S. Mohammad, Geoffrey Wallace, Ayelet Zerem, Amy L Schneider, Kyra E. Stuurman, Deepak Gill, Alison M. Muir, Russell C. Dale, Gali Heimer, Martino Montomoli, Elena Gardella, Emmanuelle Ranza, Simone Mandelstam, Peter Procopis, Øyvind L. Busk, Christian Korff, Arjan Bouman, Boudewijn Gunning, Connie T.R.M. Stumpel, Yunus Balcik, Christa de Geus, Philipp S. Reif, Yue-Hua Zhang, Sameer M. Zuberi, Volodymyr Kharytonov, Sébastien Küry, Patrick Edery, Sebastien Moutton, Trine Bjørg Hammer, Hannah Stamberger, Joseph D. Symonds, Gaetan Lesca, Samuel F. Berkovic, Massimiliano Rossi, Danique R.M. Vlaskamp, Eric W. Klee, Mark T Mackay, Felix Rosenow, Erica L. Macke, Chirag Patel, Jacob Bie Granild-Jensen, Helenius J. Schelhaas, Danielle M. Andrade, Lynette G. Sadleir, Iris M de Lange, Roseline Caumes, Eva Morava, Frédéric Tran Mau-Them, Anita Cairns, Keren Yosovich, Jing Zhang, Bruria Ben Zeev, Nicolas Chatron, Dorit Lev, Laura Reed, Pauline Monin, Eva H. Brilstra, Birgitte Bertelsen, Georgie Hollingsworth, Nienke E. Verbeek, Heather C Mefford, Rikke S. Møller, Johan R. Helle, Christina Fenger, Meriel McEntagart, Thomas Smol, Mark F. Bennett, Yuri A. Zarate, Renzo Guerrini, Elena Parrini, Candace T. Myers, Judith S. Verhoeven, Bertrand Isidor, Ruth Shalev, David A. Koolen, Ingrid E. Scheffer, Bobby P. C. Koeleman, Lauren Gunderson, Michael S. Hildebrand, Tara Sadoway, Richard J. Leventer, Sanjay M. Sisodiya, Krati Shah, Edith P. Almanza Fuerte

Publikováno v: Genetics in Medicine, 23(2), 363-373. Nature Publishing Group
Genetics in Medicine, 23, 2, pp. 363-373
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in Medicine, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Genetics in medicine
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y-H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in Medicine, 23(2), 363-373. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 363-373

Contains fulltext : 231688.pdf (Publisher’s version ) (Closed access) PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae8c8c6faa9e2b5a65e17855559602f1
https://doi.org/10.1038/s41436-020-00988-9

Somatic activating

Autor: Kaitlyn, Zenner, Dana M, Jensen, Victoria, Dmyterko, Giridhar M, Shivaram, Candace T, Myers, Cate R, Paschal, Erin R, Rudzinski, Minh-Hang M, Pham, V Chi, Cheng, Scott C, Manning, Randall A, Bly, Sheila, Ganti, Jonathan A, Perkins, James T, Bennett

Publikováno v: HGG advances. 3(2)

Somatic activating variants in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::48ee567b2cc62d36d138e7fc7347a702
https://pubmed.ncbi.nlm.nih.gov/35373151